A newly recognized syndrome of severe growth deficiency, microcephaly, intellectual disability, and characteristic facial features

Chana Vinkler, Esther Leshinsky-Silver, Marina Michelson, Dorothea Haas, Tally Lerman-Sagie, Dorit Lev

Research output: Contribution to journalArticlepeer-review

Abstract

Genetic syndromes with proportionate severe short stature are rare. We describe two sisters born to nonconsanguineous parents with severe linear growth retardation, poor weight gain, microcephaly, characteristic facial features, cutaneous syndactyly of the toes, high myopia, and severe intellectual disability. During infancy and early childhood, the girls had transient hepatosplenomegaly and low blood cholesterol levels that normalized later. A thorough evaluation including metabolic studies, radiological, and genetic investigations were all normal. Cholesterol metabolism and transport were studied and no definitive abnormality was found. No clinical deterioration was observed and no metabolic crises were reported. After due consideration of other known hereditary causes of post-natal severe linear growth retardation, microcephaly, and intellectual disability, we propose that this condition represents a newly recognized autosomal recessive multiple congenital anomaly-intellectual disability syndrome.

Original languageEnglish
Pages (from-to)288-292
Number of pages5
JournalEuropean Journal of Medical Genetics
Volume57
Issue number6
DOIs
StatePublished - May 2014

Keywords

  • Intellectual disability
  • Low cholesterol
  • Microcephaly
  • Small stature

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